Variant report

Variant	rs7990250
Chromosome Location	chr13:80088922-80088923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80088753..80091957-chr13:80093652..80097974,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1335368	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1335370	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1408049	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs1414155	0.96[EUR][1000 genomes]
rs1414156	0.96[EUR][1000 genomes]
rs1577418	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2065743	0.96[EUR][1000 genomes]
rs2181433	0.86[EUR][1000 genomes]
rs2484344	0.87[EUR][1000 genomes]
rs2760101	0.94[EUR][1000 genomes]
rs2760103	0.97[EUR][1000 genomes]
rs2760106	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2783120	0.97[EUR][1000 genomes]
rs2783121	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2783122	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2783127	0.85[EUR][1000 genomes]
rs386603	0.86[EUR][1000 genomes]
rs4145207	0.94[EUR][1000 genomes]
rs4476060	0.89[EUR][1000 genomes]
rs4885636	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6563115	0.97[EUR][1000 genomes]
rs700396	0.95[EUR][1000 genomes]
rs7990344	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7996493	0.93[EUR][1000 genomes]
rs9565510	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9574429	0.88[EUR][1000 genomes]
rs9574434	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9593399	0.83[EUR][1000 genomes]
rs987284	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7990250	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80067200-80095000	Weak transcription	HSMM	muscle
3	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
5	chr13:80076200-80093200	Weak transcription	HMEC	breast
6	chr13:80077600-80095600	Weak transcription	Fetal Intestine Large	intestine
7	chr13:80077800-80089000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
9	chr13:80078000-80097800	Weak transcription	Ovary	ovary
10	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
11	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:80082800-80092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:80082800-80096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:80082800-80096600	Weak transcription	Lung	lung
15	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:80083000-80095200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
19	chr13:80083200-80095000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:80083200-80095000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:80083400-80092200	Weak transcription	NHEK	skin
22	chr13:80083400-80093000	Weak transcription	Right Atrium	heart
23	chr13:80083400-80096200	Weak transcription	Left Ventricle	heart
24	chr13:80085000-80093000	Weak transcription	Fetal Intestine Small	intestine
25	chr13:80085000-80096800	Weak transcription	Primary T cells from cord blood	blood
26	chr13:80086000-80090800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:80086200-80091000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr13:80086800-80098400	Weak transcription	Brain Substantia Nigra	brain
29	chr13:80087000-80095000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:80087400-80090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:80087400-80092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:80087400-80093800	Enhancers	Dnd41	blood
33	chr13:80087400-80095200	Weak transcription	Liver	Liver
34	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
35	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
36	chr13:80087800-80095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:80087800-80096600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr13:80088000-80089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:80088000-80089800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:80088000-80095200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:80088600-80089400	Enhancers	Brain Hippocampus Middle	brain
42	chr13:80088600-80091600	Enhancers	Fetal Heart	heart
43	chr13:80088800-80089000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:80088800-80089200	Enhancers	Brain Angular Gyrus	brain
45	chr13:80088800-80089400	Enhancers	Small Intestine	intestine

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